|
1
|
(HPO:0000846)
|
Adrenal insufficiency |
|
|
|
|
24 / 7739
|
|
2
|
(HPO:0008207)
|
Primary adrenal insufficiency |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
3
|
(HPO:0001053)
|
Hypopigmented skin patches |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
|
4
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
|
|
297 / 7739
|
|
5
|
(HPO:0000613)
|
Photophobia |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
6
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
|
8
|
(HPO:0002960)
|
Autoimmunity |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
9
|
(HPO:0000829)
|
Hypoparathyroidism |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
10
|
(HPO:0002514)
|
Cerebral calcification |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
11
|
(HPO:0008221)
|
Adrenal hyperplasia |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
12
|
(HPO:0100659)
|
Abnormality of the cerebral vasculature |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
13
|
(HPO:0100530)
|
Abnormality of calcium-phosphate metabolism |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
14
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
15
|
(HPO:0000134)
|
Female hypogonadism |
|
|
|
|
5 / 7739
|
|
16
|
(HPO:0001045)
|
Vitiligo |
|
|
|
|
13 / 7739
|
|
17
|
(HPO:0001081)
|
Cholelithiasis |
|
|
|
|
36 / 7739
|
|
18
|
(HPO:0001096)
|
Keratoconjunctivitis |
|
|
|
|
3 / 7739
|
|
19
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
20
|
(HPO:0001746)
|
Asplenia |
|
|
|
|
19 / 7739
|
|
21
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
22
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
23
|
(HPO:0002024)
|
Malabsorption |
|
|
|
|
142 / 7739
|
|
24
|
(HPO:0002582)
|
Chronic atrophic gastritis |
|
|
|
|
2 / 7739
|
|
25
|
(HPO:0002728)
|
Chronic mucocutaneous candidiasis |
|
|
|
|
14 / 7739
|
|
26
|
(HPO:0004319)
|
Hypoaldosteronism |
|
|
|
|
9 / 7739
|
|
27
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
28
|
(HPO:0100651)
|
Type I diabetes mellitus |
|
|
|
|
44 / 7739
|
|
29
|
(HPO:0200120)
|
Chronic active hepatitis |
|
|
|
|
4 / 7739
|
|
30
|
(MedDRA:10023365)
|
Keratopathy |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
32
|
(OMIM)
|
Ectodermal dystrophy |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Hypoaldosteronism, transient, isolated |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Pituitary defects |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Pernicious anemia |
|
|
|
|
3 / 7739
|
|
36
|
(OMIM)
|
Multiple autoantibodies |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
38
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
40
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|